Prenatal diagnosis of pure partial monosomy 18p associated with holoprosencephaly and congenital heart defects |
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| Authors: | Zhou Yi Xie Yingjun Chen Yongzhen Zhong Liangying Shang Meijiao Chen Baojiang |
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| Institution: | 1. Fetal Medicine Center, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, China;2. Department of Laboratory Medicine, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, China |
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| Abstract: | We applied CMA to detect chromosomal variations during a prenatal diagnosis and detected a 4.5 Mb pure microdeletion at 18p11.3 that was not detected by conventional karyotyping. Fluorescent in situ hybridization (FISH) analysis was performed to confirm the deletion. Accurate breakpoints of the deletion in this patient were used to build correlations between monosomy 18p and the concomitant phenotypes, particularly holoprosencephaly (HPE), which is rarely reported in monosomy 18p11.3. |
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| Keywords: | CMA Chromosome Microarray Analysis HPE holoprosencephaly FISH fluorescent in situ hybridization |
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